ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1055-14del

gnomAD frequency: 0.00006  dbSNP: rs140002183
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000376591 SCV000402736 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284460 SCV000402737 uncertain significance Naxos disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000478371 SCV000565086 likely benign not specified 2016-03-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002061226 SCV002466679 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-12-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000478371 SCV003928534 benign not specified 2023-04-26 criteria provided, single submitter clinical testing

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